Canonical Allele Identifier: CA374034566
Gene: BICD2 HGNC NCBI

Linked Data

dbSNP Id: rs1272758333
gnomAD v2: 9-95480939-G-A
gnomAD v4: 9-92718657-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92718657G>A , CM000671.2:g.92718657G>A GRCh38
NC_000009.11:g.95480939G>A , CM000671.1:g.95480939G>A GRCh37
NC_000009.10:g.94520760G>A NCBI36
NG_033908.1:g.51145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356884.11:c.1988C>T MANE Select ENSP00000349351.6:p.Pro663Leu
ENST00000356884.10:c.1988C>T ENSP00000349351.6:p.Pro663Leu
ENST00000375512.3:c.1988C>T ENSP00000364662.3:p.Pro663Leu
NM_001003800.1:c.1988C>T NP_001003800.1:p.Pro663Leu
NM_015250.3:c.1988C>T NP_056065.1:p.Pro663Leu
XM_017014551.1:c.2069C>T XP_016870040.1:p.Pro690Leu
NM_001003800.2:c.1988C>T MANE Select NP_001003800.1:p.Pro663Leu
NM_015250.4:c.1988C>T NP_056065.1:p.Pro663Leu